Cellosaurus logo
expasy logo

Cellosaurus IBMS-iPSC-045-02 (CVCL_XD52)

[Text version]
Cell line name IBMS-iPSC-045-02
Accession CVCL_XD52
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-045-02 (RRID:CVCL_XD52)
Comments From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
Population: Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3052; DSP; Simple; p.Arg2639Gln (c.7916G>A); ClinVar=VCV000163287; Zygosity=Unspecified (BCRC=SC81110).
Disease Short QT syndrome (NCIt: C71060)
Familial short QT syndrome (ORDO: Orphanet_51083)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 81Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) BCRC; SC81110
Cell line databases/resources SKIP; SKIP005714
Encyclopedic resources Wikidata; Q94313060
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number10